CDKN1A cyclin dependent kinase inhibitor 1A
Gene ID: 1026, updated on 5-Mar-2024Gene type: protein coding
Also known as: P21; CIP1; SDI1; WAF1; CAP20; CDKN1; MDA-6; p21CIP1
- See all available tests in GTR for this gene
- Go to complete Gene record for CDKN1A
- Go to Variation Viewer for CDKN1A variants
Summary
This gene encodes a potent cyclin-dependent kinase inhibitor. The encoded protein binds to and inhibits the activity of cyclin-cyclin-dependent kinase2 or -cyclin-dependent kinase4 complexes, and thus functions as a regulator of cell cycle progression at G1. The expression of this gene is tightly controlled by the tumor suppressor protein p53, through which this protein mediates the p53-dependent cell cycle G1 phase arrest in response to a variety of stress stimuli. This protein can interact with proliferating cell nuclear antigen, a DNA polymerase accessory factor, and plays a regulatory role in S phase DNA replication and DNA damage repair. This protein was reported to be specifically cleaved by CASP3-like caspases, which thus leads to a dramatic activation of cyclin-dependent kinase2, and may be instrumental in the execution of apoptosis following caspase activation. Mice that lack this gene have the ability to regenerate damaged or missing tissue. Multiple alternatively spliced variants have been found for this gene. [provided by RefSeq, Sep 2015]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction. GeneReviews: Not available | |
Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk. GeneReviews: Not available | |
Genome- and phenome-wide analyses of cardiac conduction identifies markers of arrhythmia risk. GeneReviews: Not available | |
Identification of three novel genetic variations associated with electrocardiographic traits (QRS duration and PR interval) in East Asians. GeneReviews: Not available | |
Several common variants modulate heart rate, PR interval and QRS duration. GeneReviews: Not available |
Genomic context
- Location:
- 6p21.2
- Sequence:
- Chromosome: 6; NC_000006.12 (36676463..36687332)
- Total number of exons:
- 6
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | GeneView ReportGo to Variation Viewer for CDKN1A variants |
1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- BioSystemsBioSystems
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SNP: GeneViewSNPs linked from GeneView
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